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UniProtKB/Swiss-Prot P43080: Variant p.Glu111Val

Guanylyl cyclase-activating protein 1
Gene: GUCA1A
Variant information

Variant position:  111
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glutamate (E) to Valine (V) at position 111 (E111V, p.Glu111Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (E) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CORD14; results in impaired guanylate cyclase regulator activity; at low calcium concentrations the mutant protein stimulates GUCY2D as the wild-type while at high calcium concentrations it does not fully inhibit GUCY2D; decreased affinity for calcium ions.
Any additional useful information about the variant.



Sequence information

Variant position:  111
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  201
The length of the canonical sequence.

Location on the sequence:   KLRWYFKLYDVDGNGCIDRD  E LLTIIQAIRAINPCSDTTMT
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KLRWYFKLYDVDGNGCIDRDELLTIIQAIRAINPCSDTTMT

Mouse                         KLRWYFKLYDVDGNGCIDRDELLTIIRAIRTINPWSDSSMS

Bovine                        KLRWYFKLYDVDGNGCIDRDELLTIIRAIRAINPCSDSTMT

Chicken                       KLRWYFKLYDVDGNGCIDRGELLNIIKAIRAINRCNEA-MT

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 2 – 201 Guanylyl cyclase-activating protein 1
Domain 87 – 122 EF-hand 3
Calcium binding 100 – 111 2


Literature citations

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.
Marino V.; Dal Cortivo G.; Oppici E.; Maltese P.E.; D'Esposito F.; Manara E.; Ziccardi L.; Falsini B.; Magli A.; Bertelli M.; Dell'Orco D.;
Hum. Mol. Genet. 27:4204-4217(2018)
Cited for: VARIANT CORD14 VAL-111; CHARACTERIZATION OF VARIANT CORD14 VAL-111; FUNCTION; SUBUNIT;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.